Krawczak Michael, Nikolaus Susanna, von Eberstein Huberta, Croucher Peter J P, El Mokhtari Nour Eddine, Schreiber Stefan
Institute of Medical Informatics and Statistics, Christian Albrechts University, Kiel, Germany.
Community Genet. 2006;9(1):55-61. doi: 10.1159/000090694.
Patient samples used for mapping complex human disease genes are unlikely to be representative of the phenotype spectrum of the respective population as a whole. On the other hand, most ongoing prospective studies are probably too small for evaluating polygenic disease markers.
Precise estimates of population-specific genotypic risks can be obtained efficiently through the complete ascertainment of patients in a geographically confined area. The PopGen project uses the most northern part of Germany as a target region for such a pursuit.
PopGen currently pursues recruitment, sampling and processing activities in close collaboration with a multitude of clinical partners, covering cardiovascular, neuropsychiatric and environmental diseases.
PopGen has successfully established itself as a large-scale genetic epidemiological project of international recognition.
用于绘制复杂人类疾病基因图谱的患者样本不太可能代表整个人口的表型谱。另一方面，大多数正在进行的前瞻性研究可能规模太小，无法评估多基因疾病标记物。
通过在地理上受限区域对患者进行全面确定，可以有效地获得特定人群基因型风险的精确估计。PopGen项目将德国最北部地区作为实现这一目标的目标区域。
PopGen目前与众多临床合作伙伴密切合作开展招募、采样和处理活动，涵盖心血管疾病、神经精神疾病和环境疾病。
PopGen已成功确立为一个获得国际认可的大规模遗传流行病学项目。
